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hypercholesterolemia, autosomal dominant, 3

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.
Uniprot Description A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.
Mondo Term and Equivalent IDs
MONDO:0011369:  hypercholesterolemia, autosomal dominant, 3
MESH:C566337: 
UMLS:C1863551: